Transcriptomics

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Transcription profiling by array of human fibroblasts and monocytes from patients with choroideremia


ABSTRACT: Choroideremia (CHM) is a progressive X-linked retinopathy caused by mutations in the CHM gene, which encodes Rab escort protein-1 (REP-1), an escort protein involved in the prenylation of Rabs. Under-prenylation of certain Rabs, as a result of loss of function mutations in REP-1, could affect vesicular trafficking, exocytosis and secretion. To evaluate this hypothesis, intracellular vesicle transport, lysosomal acidification and rates of proteolytic degradation were studied in monocytes (CD14+ fraction) and primary skin fibroblasts from the nine age-matched controls and thirteen CHM patients carrying 10 different loss-of-function mutations. expression data were collected from 6 CHM patients' monocytes and 4 CHM primary fibroblasts cultures, monocytes or FB from 5 normal age-matched subjects were used as a control

ORGANISM(S): Homo sapiens  

SUBMITTER: Ian M MacDonald   Jennifer Barb  Natalia V Strunnikova  Peter Munson 

PROVIDER: E-GEOD-17549 | ArrayExpress | 2010-02-21

SECONDARY ACCESSION(S): GSE17549PRJNA118547

REPOSITORIES: GEO, ArrayExpress

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Publications

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.

Strunnikova Natalia V NV   Barb Jennifer J   Sergeev Yuri V YV   Thiagarajasubramanian Ashwin A   Silvin Christopher C   Munson Peter J PJ   Macdonald Ian M IM  

PloS one 20091222 12


BACKGROUND: Choroideremia (CHM) is a progressive X-linked retinopathy caused by mutations in the CHM gene, which encodes Rab escort protein-1 (REP-1), an escort protein involved in the prenylation of Rabs. Under-prenylation of certain Rabs, as a result of loss of function mutations in REP-1, could affect vesicular trafficking, exocytosis and secretion in peripheral cells of CHM patients. METHODOLOGY/PRINCIPAL FINDINGS: To evaluate this hypothesis, intracellular vesicle transport, lysosomal acidi  ...[more]

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